Incidental Mutation 'R3943:Zfp712'
ID |
307557 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp712
|
Ensembl Gene |
ENSMUSG00000090641 |
Gene Name |
zinc finger protein 712 |
Synonyms |
4921504N20Rik, mszf31, mszf89 |
MMRRC Submission |
040924-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R3943 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
67186660-67209234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67189396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 377
(Q377R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167565]
|
AlphaFold |
E9PXJ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000167565
AA Change: Q377R
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000126665 Gene: ENSMUSG00000090641 AA Change: Q377R
Domain | Start | End | E-Value | Type |
KRAB
|
5 |
65 |
7.38e-36 |
SMART |
ZnF_C2H2
|
109 |
131 |
1.28e-3 |
SMART |
ZnF_C2H2
|
137 |
159 |
4.17e-3 |
SMART |
ZnF_C2H2
|
165 |
186 |
1.73e0 |
SMART |
ZnF_C2H2
|
192 |
214 |
3.39e-3 |
SMART |
ZnF_C2H2
|
220 |
242 |
1.58e-3 |
SMART |
ZnF_C2H2
|
248 |
270 |
8.34e-3 |
SMART |
ZnF_C2H2
|
276 |
298 |
4.17e-3 |
SMART |
ZnF_C2H2
|
304 |
326 |
4.87e-4 |
SMART |
ZnF_C2H2
|
332 |
354 |
1.04e-3 |
SMART |
ZnF_C2H2
|
360 |
382 |
5.5e-3 |
SMART |
ZnF_C2H2
|
388 |
410 |
1.89e-1 |
SMART |
ZnF_C2H2
|
416 |
438 |
7.15e-2 |
SMART |
ZnF_C2H2
|
444 |
466 |
3.58e-2 |
SMART |
ZnF_C2H2
|
472 |
494 |
5.99e-4 |
SMART |
ZnF_C2H2
|
500 |
522 |
2.12e-4 |
SMART |
ZnF_C2H2
|
528 |
550 |
3.83e-2 |
SMART |
ZnF_C2H2
|
556 |
578 |
2.95e-3 |
SMART |
ZnF_C2H2
|
584 |
606 |
6.32e-3 |
SMART |
ZnF_C2H2
|
612 |
634 |
3.89e-3 |
SMART |
ZnF_C2H2
|
640 |
662 |
3.49e-5 |
SMART |
ZnF_C2H2
|
668 |
690 |
1.84e-4 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp |
A |
G |
2: 168,026,980 (GRCm39) |
I105T |
possibly damaging |
Het |
Atf3 |
A |
G |
1: 190,903,713 (GRCm39) |
I171T |
possibly damaging |
Het |
Atp6v0a1 |
A |
G |
11: 100,946,343 (GRCm39) |
I773V |
probably benign |
Het |
Bltp2 |
T |
A |
11: 78,160,350 (GRCm39) |
L603* |
probably null |
Het |
Cad |
T |
A |
5: 31,229,729 (GRCm39) |
|
probably null |
Het |
Camkv |
T |
A |
9: 107,825,182 (GRCm39) |
D366E |
possibly damaging |
Het |
Dnah8 |
T |
A |
17: 30,913,039 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
G |
4: 98,880,668 (GRCm39) |
S932P |
probably damaging |
Het |
Fam227a |
C |
T |
15: 79,505,060 (GRCm39) |
|
probably benign |
Het |
Fbp2 |
A |
G |
13: 62,989,607 (GRCm39) |
F233S |
possibly damaging |
Het |
Gnptab |
G |
T |
10: 88,269,756 (GRCm39) |
V820L |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Gpr158 |
C |
A |
2: 21,373,370 (GRCm39) |
R102S |
possibly damaging |
Het |
Gramd1b |
A |
T |
9: 40,442,340 (GRCm39) |
M1K |
probably null |
Het |
H2-T23 |
A |
G |
17: 36,341,535 (GRCm39) |
V312A |
probably benign |
Het |
Hltf |
A |
T |
3: 20,146,908 (GRCm39) |
I494F |
probably damaging |
Het |
Il16 |
G |
A |
7: 83,301,223 (GRCm39) |
L300F |
probably damaging |
Het |
Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
Kcnq1 |
T |
C |
7: 142,979,825 (GRCm39) |
L657P |
probably damaging |
Het |
Krt4 |
G |
A |
15: 101,829,685 (GRCm39) |
T281M |
probably benign |
Het |
Mia3 |
A |
G |
1: 183,140,127 (GRCm39) |
F196S |
possibly damaging |
Het |
Naip6 |
T |
C |
13: 100,431,247 (GRCm39) |
T1197A |
probably benign |
Het |
Nrxn2 |
T |
A |
19: 6,523,365 (GRCm39) |
N204K |
probably damaging |
Het |
Or7g27 |
T |
A |
9: 19,250,371 (GRCm39) |
M205K |
probably benign |
Het |
Rassf6 |
G |
T |
5: 90,752,185 (GRCm39) |
Q258K |
possibly damaging |
Het |
Rhpn1 |
T |
C |
15: 75,583,655 (GRCm39) |
L380P |
probably damaging |
Het |
Ribc2 |
A |
G |
15: 85,019,451 (GRCm39) |
M78V |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,799,950 (GRCm39) |
H73L |
probably damaging |
Het |
Smg6 |
G |
A |
11: 74,820,367 (GRCm39) |
G213R |
probably damaging |
Het |
Sspn |
T |
A |
6: 145,880,083 (GRCm39) |
W62R |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,528,710 (GRCm39) |
S1656G |
probably benign |
Het |
Svep1 |
T |
A |
4: 58,084,807 (GRCm39) |
|
probably null |
Het |
Tab1 |
T |
C |
15: 80,037,941 (GRCm39) |
L258P |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Trf |
T |
A |
9: 103,100,151 (GRCm39) |
I271F |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,673,138 (GRCm39) |
N538K |
possibly damaging |
Het |
Usp28 |
T |
A |
9: 48,911,666 (GRCm39) |
L25I |
probably benign |
Het |
Vmn2r14 |
A |
T |
5: 109,363,930 (GRCm39) |
I662N |
probably damaging |
Het |
Vmn2r42 |
A |
T |
7: 8,197,779 (GRCm39) |
F280Y |
possibly damaging |
Het |
Vps8 |
A |
T |
16: 21,288,873 (GRCm39) |
N411Y |
probably damaging |
Het |
Vwa2 |
T |
G |
19: 56,897,747 (GRCm39) |
L684R |
probably damaging |
Het |
Zfp947 |
C |
A |
17: 22,364,801 (GRCm39) |
G291V |
probably damaging |
Het |
Zpld2 |
T |
C |
4: 133,927,656 (GRCm39) |
T366A |
probably benign |
Het |
|
Other mutations in Zfp712 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01407:Zfp712
|
APN |
13 |
67,190,230 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02148:Zfp712
|
APN |
13 |
67,190,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R0085:Zfp712
|
UTSW |
13 |
67,189,256 (GRCm39) |
missense |
probably benign |
0.00 |
R0332:Zfp712
|
UTSW |
13 |
67,188,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R1676:Zfp712
|
UTSW |
13 |
67,200,400 (GRCm39) |
missense |
probably benign |
0.00 |
R1838:Zfp712
|
UTSW |
13 |
67,190,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R1997:Zfp712
|
UTSW |
13 |
67,190,114 (GRCm39) |
nonsense |
probably null |
|
R2147:Zfp712
|
UTSW |
13 |
67,189,960 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2203:Zfp712
|
UTSW |
13 |
67,190,048 (GRCm39) |
missense |
probably benign |
0.32 |
R3421:Zfp712
|
UTSW |
13 |
67,200,456 (GRCm39) |
missense |
probably damaging |
0.98 |
R4722:Zfp712
|
UTSW |
13 |
67,190,177 (GRCm39) |
missense |
probably benign |
0.41 |
R4952:Zfp712
|
UTSW |
13 |
67,188,905 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4964:Zfp712
|
UTSW |
13 |
67,188,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R4966:Zfp712
|
UTSW |
13 |
67,188,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R4967:Zfp712
|
UTSW |
13 |
67,188,773 (GRCm39) |
nonsense |
probably null |
|
R5114:Zfp712
|
UTSW |
13 |
67,189,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R5361:Zfp712
|
UTSW |
13 |
67,189,079 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5922:Zfp712
|
UTSW |
13 |
67,189,668 (GRCm39) |
missense |
probably benign |
0.01 |
R5950:Zfp712
|
UTSW |
13 |
67,192,881 (GRCm39) |
missense |
probably damaging |
0.99 |
R6004:Zfp712
|
UTSW |
13 |
67,189,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R6236:Zfp712
|
UTSW |
13 |
67,188,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R6298:Zfp712
|
UTSW |
13 |
67,189,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R6499:Zfp712
|
UTSW |
13 |
67,200,400 (GRCm39) |
missense |
probably benign |
0.00 |
R6774:Zfp712
|
UTSW |
13 |
67,189,568 (GRCm39) |
missense |
probably benign |
0.01 |
R6932:Zfp712
|
UTSW |
13 |
67,188,891 (GRCm39) |
nonsense |
probably null |
|
R7410:Zfp712
|
UTSW |
13 |
67,189,400 (GRCm39) |
missense |
probably benign |
0.00 |
R7831:Zfp712
|
UTSW |
13 |
67,200,483 (GRCm39) |
splice site |
probably null |
|
R7923:Zfp712
|
UTSW |
13 |
67,190,249 (GRCm39) |
missense |
probably benign |
0.01 |
R8144:Zfp712
|
UTSW |
13 |
67,189,172 (GRCm39) |
missense |
probably benign |
|
R8298:Zfp712
|
UTSW |
13 |
67,188,976 (GRCm39) |
missense |
probably benign |
0.06 |
R9115:Zfp712
|
UTSW |
13 |
67,189,241 (GRCm39) |
missense |
probably damaging |
0.96 |
R9138:Zfp712
|
UTSW |
13 |
67,189,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R9187:Zfp712
|
UTSW |
13 |
67,188,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R9256:Zfp712
|
UTSW |
13 |
67,188,791 (GRCm39) |
missense |
probably benign |
0.28 |
R9651:Zfp712
|
UTSW |
13 |
67,188,824 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCTTCTCTCCAGTATGAAATC -3'
(R):5'- GGGGAGAAACGCTACATATGTG -3'
Sequencing Primer
(F):5'- GCATGTGTAGGATTTTCCCCCAG -3'
(R):5'- GGCAAAGCCTTTAATAACTGTTCAGC -3'
|
Posted On |
2015-04-17 |